A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations

Eiji Matsukuma, Yoshimitsu Gotoh, Yoshiyuki Kuroyanagi, Takuji Yamada, Mitsuji Iwasa, Satoshi Yamakawa, Takuhito Nagai, Nobuaki Takagi, Hiromu Mae, Kenji Iijima, Elena Bresin

Research output: Contribution to journalArticle

Abstract

A 9-year-old boy with pallor and macrohematuria showed hemolytic anemia, thrombocytopenia and renal failure. There was no history of diarrhea and the stool culture was negative. A diagnosis of atypical hemolytic uremic syndrome (HUS) was confirmed; however, the cause of the prolonged activated partial thromboplastin time (APTT) was unknown. Plasma exchange and hemodialysis were performed because of progressive hemolytic anemia and renal dysfunction. Fresh frozen plasma was administered frequently to correct the prolonged APTT after hemolysis was controlled and C3 levels had recovered. Factor H (FH) and factor I (IF) levels were normal and we did not detect mutations of FH, IF and membrane cofactor protein. Further investigation revealed the presence of anti-FH antibody in the patient's plasma and a deficiency of coagulation factor XII. Analysis of the patient's coagulation system displayed

Original languageEnglish
Pages (from-to)269-274
Number of pages6
JournalClinical and Experimental Nephrology
Volume15
Issue number2
DOIs
Publication statusPublished - Apr 2011

Fingerprint

Factor XII Deficiency
Complement Factor H
Partial Thromboplastin Time
Hemolytic Anemia
Mutation
Antibodies
CD46 Antigens
Factor XII
Pallor
Plasma Exchange
Hemolysis
Thrombocytopenia
Fibrinogen
Renal Insufficiency
Renal Dialysis
Diarrhea
Kidney
Atypical Hemolytic Uremic Syndrome

Keywords

  • Anti-factor H antibody
  • Atypical hemolytic uremic syndrome
  • Coagulation factor XII deficiency
  • Factor H
  • Prolonged APTT

ASJC Scopus subject areas

  • Nephrology
  • Physiology
  • Physiology (medical)

Cite this

A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations. / Matsukuma, Eiji; Gotoh, Yoshimitsu; Kuroyanagi, Yoshiyuki; Yamada, Takuji; Iwasa, Mitsuji; Yamakawa, Satoshi; Nagai, Takuhito; Takagi, Nobuaki; Mae, Hiromu; Iijima, Kenji; Bresin, Elena.

In: Clinical and Experimental Nephrology, Vol. 15, No. 2, 04.2011, p. 269-274.

Research output: Contribution to journalArticle

Matsukuma, Eiji ; Gotoh, Yoshimitsu ; Kuroyanagi, Yoshiyuki ; Yamada, Takuji ; Iwasa, Mitsuji ; Yamakawa, Satoshi ; Nagai, Takuhito ; Takagi, Nobuaki ; Mae, Hiromu ; Iijima, Kenji ; Bresin, Elena. / A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations. In: Clinical and Experimental Nephrology. 2011 ; Vol. 15, No. 2. pp. 269-274.
@article{10d43e5fe018492e8abce4f80b271be3,
title = "A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations",
abstract = "A 9-year-old boy with pallor and macrohematuria showed hemolytic anemia, thrombocytopenia and renal failure. There was no history of diarrhea and the stool culture was negative. A diagnosis of atypical hemolytic uremic syndrome (HUS) was confirmed; however, the cause of the prolonged activated partial thromboplastin time (APTT) was unknown. Plasma exchange and hemodialysis were performed because of progressive hemolytic anemia and renal dysfunction. Fresh frozen plasma was administered frequently to correct the prolonged APTT after hemolysis was controlled and C3 levels had recovered. Factor H (FH) and factor I (IF) levels were normal and we did not detect mutations of FH, IF and membrane cofactor protein. Further investigation revealed the presence of anti-FH antibody in the patient's plasma and a deficiency of coagulation factor XII. Analysis of the patient's coagulation system displayed",
keywords = "Anti-factor H antibody, Atypical hemolytic uremic syndrome, Coagulation factor XII deficiency, Factor H, Prolonged APTT",
author = "Eiji Matsukuma and Yoshimitsu Gotoh and Yoshiyuki Kuroyanagi and Takuji Yamada and Mitsuji Iwasa and Satoshi Yamakawa and Takuhito Nagai and Nobuaki Takagi and Hiromu Mae and Kenji Iijima and Elena Bresin",
year = "2011",
month = "4",
doi = "10.1007/s10157-010-0375-z",
language = "English",
volume = "15",
pages = "269--274",
journal = "Clinical and Experimental Nephrology",
issn = "1342-1751",
publisher = "Springer Japan",
number = "2",

}

TY - JOUR

T1 - A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations

AU - Matsukuma, Eiji

AU - Gotoh, Yoshimitsu

AU - Kuroyanagi, Yoshiyuki

AU - Yamada, Takuji

AU - Iwasa, Mitsuji

AU - Yamakawa, Satoshi

AU - Nagai, Takuhito

AU - Takagi, Nobuaki

AU - Mae, Hiromu

AU - Iijima, Kenji

AU - Bresin, Elena

PY - 2011/4

Y1 - 2011/4

N2 - A 9-year-old boy with pallor and macrohematuria showed hemolytic anemia, thrombocytopenia and renal failure. There was no history of diarrhea and the stool culture was negative. A diagnosis of atypical hemolytic uremic syndrome (HUS) was confirmed; however, the cause of the prolonged activated partial thromboplastin time (APTT) was unknown. Plasma exchange and hemodialysis were performed because of progressive hemolytic anemia and renal dysfunction. Fresh frozen plasma was administered frequently to correct the prolonged APTT after hemolysis was controlled and C3 levels had recovered. Factor H (FH) and factor I (IF) levels were normal and we did not detect mutations of FH, IF and membrane cofactor protein. Further investigation revealed the presence of anti-FH antibody in the patient's plasma and a deficiency of coagulation factor XII. Analysis of the patient's coagulation system displayed

AB - A 9-year-old boy with pallor and macrohematuria showed hemolytic anemia, thrombocytopenia and renal failure. There was no history of diarrhea and the stool culture was negative. A diagnosis of atypical hemolytic uremic syndrome (HUS) was confirmed; however, the cause of the prolonged activated partial thromboplastin time (APTT) was unknown. Plasma exchange and hemodialysis were performed because of progressive hemolytic anemia and renal dysfunction. Fresh frozen plasma was administered frequently to correct the prolonged APTT after hemolysis was controlled and C3 levels had recovered. Factor H (FH) and factor I (IF) levels were normal and we did not detect mutations of FH, IF and membrane cofactor protein. Further investigation revealed the presence of anti-FH antibody in the patient's plasma and a deficiency of coagulation factor XII. Analysis of the patient's coagulation system displayed

KW - Anti-factor H antibody

KW - Atypical hemolytic uremic syndrome

KW - Coagulation factor XII deficiency

KW - Factor H

KW - Prolonged APTT

UR - http://www.scopus.com/inward/record.url?scp=79959236862&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79959236862&partnerID=8YFLogxK

U2 - 10.1007/s10157-010-0375-z

DO - 10.1007/s10157-010-0375-z

M3 - Article

C2 - 21271273

AN - SCOPUS:79959236862

VL - 15

SP - 269

EP - 274

JO - Clinical and Experimental Nephrology

JF - Clinical and Experimental Nephrology

SN - 1342-1751

IS - 2

ER -